Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Coffin-Lowry syndrome and hyperprolinemia]

D Lacombe1, F Parrot-Roulaud, J F Castell

  • 1Service de Pédiatrie et Génétique Médicale, Pellegrin-Hôpital d'Enfants, Bordeaux.

Archives Francaises De Pediatrie
|June 1, 1993
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Repression of oxidative phosphorylation by NR2F2, MTERF3 and GDF15 in human skin under high-glucose stress.

Redox biology·2025
Same author

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.

BMC health services research·2023
Same author

Real-world data in oncology: a questionnaire-based analysis of the academic research landscape examining the policies and experiences of the cancer cooperative groups.

ESMO open·2023
Same author

Bulletin de l'Academie nationale de medecine·2020
Same author

[Pandemics: Lessons from the past].

Bulletin de l'Academie nationale de medecine·2020
Same author

Re-focusing on Agnathia-Otocephaly complex.

Clinical oral investigations·2020
Same journal

A case of congenital myatonia (Oppenheim's disease).

Archives francaises de pediatrie·2010
Same journal

A case of severe haemolytic anemia anemia.

Archives francaises de pediatrie·2010
Same journal

On the acute anemia of the newborn.

Archives francaises de pediatrie·2010
Same journal

Intermittent jaundice; intrahepatic bile duct agenesis.

Archives francaises de pediatrie·2010
Same journal

Osteomyelitis with acute staphylococcus aureus with septicemia and pericarditis cured without surgery by iodo-sulfonamide therapy.

Archives francaises de pediatrie·2010
Same journal

Mickulicz syndrome and hepatomegaly during a diabetes mellitus.

Archives francaises de pediatrie·2010
See all related articles

Coffin-Lowry syndrome, a genetic disorder, presents challenges in early diagnosis. This case study explores a family with Coffin-Lowry syndrome and coincident hyperprolinemia, suggesting the association may be coincidental.

Area of Science:

  • Genetics
  • Biochemistry

Background:

  • Coffin-Lowry syndrome is a genetic disorder characterized by intellectual disability and distinct facial and digital anomalies.
  • It is inherited in an X-linked dominant pattern, making early diagnosis difficult.

Observation:

  • A 31-month-old boy presented with intellectual disability, characteristic Coffin-Lowry syndrome features, and hyperprolinemia with iminoglycinuria.
  • His mother displayed milder Coffin-Lowry syndrome manifestations and moderate hyperprolinemia.
  • The father, without physical abnormalities, exhibited hyperprolinemia and hyperglycinuria.

Findings:

  • Amino-acid chromatography revealed elevated proline levels in the affected boy and his parents.
  • The patient exhibited iminoglycinuria, while his mother did not and his father did.

Related Experiment Videos

Implications:

  • This case highlights the diagnostic challenges of Coffin-Lowry syndrome.
  • The co-occurrence of hyperprolinemia in this family with Coffin-Lowry syndrome appears to be a fortuitous association rather than a direct link.